Al-Enezi Mona, Al-Saleh Hanan, Nasser Murad
Department of Ophthalmology, Mohammed Abdul Rahman Al-Bahar Eye Center, Ibn Sina Hospital, Kuwait.
Middle East Afr J Ophthalmol. 2008 Apr;15(2):81-6. doi: 10.4103/0974-9233.51998.
Mitochondrial diseases are a clinically hetyerogenous group of disorders. They can be caused by mutations of nuclear or mitochondrial DNA (mtDNA). Some affect a single organ, but many involve multiple organ systems and often present with prominent neurologic and myopathic features. The eye is frequently affected, along with muscles and brain, but multisystem disease is common. Ophthalmic manifestations include cataract, retinopathy, optic atrophy, cortical visual loss, ptosis and ophthalmoplegia. Kearns-Sayre Syndrome (KSS), Mitochondrial Encephalopathy, Lactic Acidosis Stroke (MELAS), Myoclonic Epilepsy and Ragged Red Fiber myopathy (MERRF) and Lebers Hereditary Optic Neuropathy (LHON) are well known clinical entities that are secondary to mtDNA abnormalities, which has ophthalmic manifestations. Mitochondrial Dysfunction should be considered in the differential diagnosis of progressive multisystem disorder and specifically if there is associated neuro-ophthalmic manifestations, which may be the presenting symptom of these disorders.
线粒体疾病是一组临床异质性疾病。它们可由核DNA或线粒体DNA（mtDNA）突变引起。有些仅影响单一器官，但许多涉及多个器官系统，且常表现出明显的神经和肌病特征。眼睛经常受到影响，肌肉和大脑也会受累，但多系统疾病很常见。眼部表现包括白内障、视网膜病变、视神经萎缩、皮质性视力丧失、上睑下垂和眼肌麻痹。卡恩斯-塞尔综合征（KSS）、线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）、肌阵挛性癫痫伴破碎红纤维肌病（MERRF）以及莱伯遗传性视神经病变（LHON）是继发于mtDNA异常的知名临床病症，这些病症具有眼部表现。在进行性多系统疾病的鉴别诊断中应考虑线粒体功能障碍，特别是如果存在相关的神经眼科表现，这些表现可能是这些疾病的首发症状。
